ClinVar Miner

Variants from Kariminejad - Najmabadi Pathology & Genetics Center

Location: Iran, Islamic Republic of — Primary collection method: clinical testing
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
30 29 40 0 0 99

Gene and significance breakdown #

Total genes and gene combinations: 85
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CEP290 3 1 0 4
CDC14A 3 0 0 3
GDAP1 1 0 2 3
BAG3 1 1 0 2
KCNJ10 0 0 2 2
LMNA 0 1 1 2
MFN2 1 1 0 2
NEFL 1 1 0 2
NGLY1 0 1 1 2
TGM1 2 0 0 2
AP3B1 0 0 1 1
AP4E1 0 0 1 1
ARHGEF10 0 1 0 1
ARID1B 0 0 1 1
ATM 1 0 0 1
ATP2B3 0 0 1 1
BBS12 0 0 1 1
C12orf29, CEP290 0 1 0 1
C17orf107, CHRNE 1 0 0 1
CACNA1A 0 0 1 1
CAPN3 1 0 0 1
CERT1, POLK 0 0 1 1
CHMP1A 0 0 1 1
CHRNE 0 1 0 1
CLCN1 0 0 1 1
COL1A2 0 1 0 1
COL6A2 0 0 1 1
COLQ 0 1 0 1
CYB5R3 0 0 1 1
DMD 1 0 0 1
DNA2 0 0 1 1
DNM2 0 0 1 1
DOK7 0 0 1 1
DYNC1H1 0 1 0 1
ESPN 0 0 1 1
EXOSC2 0 0 1 1
EXOSC3 1 0 0 1
FBLN5 0 0 1 1
FBN2 0 0 1 1
FGD4 0 0 1 1
FHL1 0 0 1 1
GAREM2, HADHA 0 1 0 1
GFPT1 1 0 0 1
GIPC3 0 0 1 1
GJB1 1 0 0 1
GLI3 1 0 0 1
GMPPB 1 0 0 1
HACE1 0 1 0 1
HADHA 0 1 0 1
HJV 0 1 0 1
HSD17B4 0 1 0 1
IGHMBP2 1 0 0 1
ITPR1 0 1 0 1
KIF5A 0 0 1 1
KRT17 0 1 0 1
MYH14 0 0 1 1
MYH2, MYHAS 0 0 1 1
NF1 1 0 0 1
PDE6B 0 1 0 1
PDZD7 0 0 1 1
PGM1 0 1 0 1
PIEZO2 0 0 1 1
PIGG 0 1 0 1
PIGN 0 0 1 1
PRX 1 0 0 1
PTPRQ 0 0 1 1
RAB3GAP2 0 1 0 1
RBM10 0 1 0 1
REEP1 0 0 1 1
RNASEH2C 0 1 0 1
RYR1 0 1 0 1
SETBP1 0 1 0 1
SETX 1 0 0 1
SGCA 1 0 0 1
SH3TC2 0 1 0 1
SLC12A6 0 0 1 1
SYT2 0 0 1 1
SZT2 0 0 1 1
TANGO2 0 1 0 1
TPP1 1 0 0 1
TRAPPC9 1 0 0 1
TTN 0 0 1 1
TYR 1 0 0 1
VRK1 1 0 0 1
ZFR 0 0 1 1

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance total
Neurodevelopmental delay 1 2 6 9
Sensorineural hearing loss 3 0 4 7
Congenital myasthenic syndrome 3 2 1 6
not provided 2 3 0 5
Intellectual disability 1 1 2 4
Peripheral axonal neuropathy 1 1 2 4
Cerebellar ataxia 2 0 1 3
Muscular dystrophy 1 1 1 3
Charcot-Marie-Tooth disease 0 1 1 2
Charcot-Marie-Tooth disease type 2K 0 0 2 2
Congenital disorder of deglycosylation 0 1 1 2
Congenital myopathy 0 0 2 2
Ichthyosis (disease) 2 0 0 2
Muscle weakness 0 1 1 2
Rod-cone dystrophy 0 2 0 2
Spinal muscular atrophy 1 1 0 2
Agenesis of the corpus callosum with peripheral neuropathy 0 0 1 1
Albinism 1 0 0 1
Bardet-Biedl syndrome 0 0 1 1
Charcot-Marie-Tooth disease type 2B1 0 0 1 1
Charcot-Marie-Tooth disease type 2E 1 0 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2S 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1f 0 1 0 1
Charcot-Marie-Tooth disease, demyelinating, type 4F 1 0 0 1
Charcot-Marie-Tooth disease, dominant intermediate B 0 0 1 1
Charcot-Marie-Tooth disease, type 2A2A 1 0 0 1
Charcot-Marie-Tooth disease, type 4A 1 0 0 1
Charcot-Marie-Tooth disease, type 4C 0 1 0 1
Charcot-Marie-Tooth disease, type 4H 0 0 1 1
Congenital contractural arachnodactyly 0 0 1 1
Congenital muscular dystrophy 0 0 1 1
Demyelinating peripheral neuropathy 0 0 1 1
Developmental regression 1 0 0 1
Hemochromatosis type 2 0 1 0 1
Hereditary spastic paraplegia 0 0 1 1
Joubert syndrome 5 1 0 0 1
Meckel syndrome, type 4 0 1 0 1
Microcephaly; Intellectual disability 0 1 0 1
Microcephaly; Spastic paraparesis; Neurodevelopmental abnormality 0 0 1 1
Micrognathia; Hydronephrosis; Cleft palate 0 1 0 1
Mitochondrial trifunctional protein deficiency 0 1 0 1
Mitochondrial trifunctional protein deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 1 0 1
Muscular hypotonia 1 0 0 1
Myopathy 0 0 1 1
Myotonia 0 0 1 1
Neonatal hypotonia 0 0 1 1
Neurodegeneration 0 1 0 1
Neurofibromas 1 0 0 1
Nyctalopia 1 0 0 1
Occipital encephalocele 1 0 0 1
Pachyonychia congenita syndrome 0 1 0 1
Pallister-Hall syndrome 1 0 0 1
Peripheral neuropathy 0 0 1 1
Polyneuropathy 0 0 1 1
Psychomotor retardation 0 1 0 1
Seizures 0 1 0 1
X-linked hereditary motor and sensory neuropathy 1 0 0 1
not specified 0 0 1 1

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